272例非梗阻性无精子症不育患者的细胞和分子遗传学分析  

The effects of cytogenetic and molecular genetic on male infertility of nonobstructive azoospermia.

作　　者：沈小力[1] 张元峰[1] 辜秀丽[2] 苏萍[1,2] 

机构地区：[1]华中科技大学同济医学院计划生育研究所,湖北武汉430030 [2]华中科技大学同济医学院生殖医学中心,湖北武汉430030

出　　处：《中国优生与遗传杂志》2011年第9期53-55,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的本研究主要通过分析非梗阻性无精子症患者染色体核型分析结果和Y染色体微缺失特征探讨遗传学检查在非梗阻性无精子症男性不育中的辅助诊断及治疗方法的选择指导作用。方法选择272例非梗阻性无精子症患者,采集外周静脉血进行染色体核型分析及Y染色体微缺失检测,评估非梗阻性无精子症患者染色体核型异常以及Y染色体微缺失的检出率及特征。结果 272例非梗阻性无精子症患者染色体核型分析正常者占69.85%,异常者占30.15%,其中,常染色体异常者占5.52%,性染色体异常者24.63%;Y染色体微缺失占7.35%,在染色体核型正常患者中Y染色体微缺失占10.53%。结论开展外周血染色体核型分析和AZF检测,可评价男性不育遗传缺陷,从而更好的解释非梗阻性无精子症发病原因,提供遗传咨询和指导临床诊疗。Objective： The study aimed to investigate the functions of genetics in diagnosis on male infertility,with the results and statistics of cytogenetics on those patients who suffered from infertility due to nonobstructive azoospermia.Methods： Data of 272 azoospermia cases were collected and analyzed with cytogenetic and molecular approaches to determine the relation between azoospermia and chromosomal numbers or morphology,along with Y chromosomal micro-deletion.Results： Normal chromosomal rate in this research was 69.85%,as a comparison,abnormal autosome occupied 5.52% and abnormal sex chromosome counted 24.63% among the total cases.7.35% of patients who suffered with male infertility were azoospermia factors caused by the Y chromosome micro-deletions.Conclusion： Cytogenetic and molecular analyses play an important role in diagnosis and therapy on azoospermia male infertility.

关 键 词：无精子症 细胞遗传学 微缺失 男性不育 

分 类 号：R698.2[医药卫生—泌尿科学]